Metabolomics is the untargeted measurement of the metabolome, which is composed of the
complement of small molecules detected in a biological sample. As such, metabolomic …

Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …

Background The application of whole-exome sequencing for the diagnosis of genetic
disease has paved the way for systems-based approaches in the clinical laboratory. Here …

Importance Recent advances in newborn screening (NBS) have improved the diagnosis of
inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not …

Glucose plays a crucial role in the mammalian cell metabolism. In the erythrocytes and
endothelial cells of the blood-brain barrier, glucose uptake is mediated by the glucose …

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—
is critical, given that many respond well to targeted therapy. Newborn screening programs …

Purpose Untargeted metabolomic analysis is increasingly being used in the screening and
management of individuals with inborn errors of metabolism (IEM). We aimed to test whether …

The solute carrier (SLC) superfamily encompasses> 400 transmembrane transporters
involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and …

Introduction Analysis of blood for the evaluation of clinically relevant biomarkers requires
precise collection and sample handling by phlebotomists and laboratory staff. An important …

Methods Data for this review was identified through a literature search using PubMed,
Google Scholar, and personal repositories of articles collected by the authors. Findings are …